Secrets of my DNA: Behind Raymond McCauley's cut-rate gene sequencing

This article was taken from the March 2011 issue of Wired
magazine. Be the first to read Wired's articles in print before
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Raymond McCauley is betting on cheap gene tests plus
some amateur science to minimise his chances of succumbing to a
sight-threatening syndrome. Who needs doctors in the new era of
health hacking?

Little more than three years ago, San Diego-based biotech firm
Illumina, a market leader in providing genetic-analysis services
and equipment to labs and researchers worldwide, entered a landmark
partnership: to develop the first genotyping kits for one of the
first direct-to-consumer gene-testing services, 23andMe.

The deal, with the help of cocktails-and-testing-kits "spit
parties" and a TV appearance on Oprah, would help to take the
results of Illumina's work well beyond the research community and
into thousands of homes across the United States. To celebrate, the
company's employees were offered an idiosyncratic company perk:
cut-rate gene sequencing.

At the time, the cost to have your entire genome sequenced by
Illumina was $350,000 (£218,000). 23andMe was marketing a partial
sequencing, covering only certain areas of the genome and producing
reports for ten disease risks and four genetic traits, for $999.
Under the terms of the deal, Illumina employees could get the
partial sequence for $249. (Advances in technology and knowledge
mean that a current 23andMe test starts at $199, providing 182
reports.)

In Illumina's offices in Hayward, California, senior
bioinformatics scientist Raymond McCauley could hardly believe it.
"My eyes got really big," he recalls. "I thought: 'That's
fantastic. I'll know everything there is to know.'" McCauley, a
softly spoken Texan who, at 44, describes himself as a
"nuts-and-bolts guy" of computational biology, has worked in the
commercial genetics industry almost since its inception. He had
known that one day gene sequencing would become cheap enough for
him to be able to afford it himself. But he hadn't imagined it
would arrive so quickly. Just seven years earlier, when he was
working for Rapigene Incorporated in Seattle, by his estimates the
company would have charged at least $2.5 million for the same
analysis he was now being offered through the post for the price of
a PlayStation.

McCauley immediately ordered a test for himself and, soon
afterwards, for his extended family: 11 tests in total, including
ones for his partner, their twin sons, his mother, his sister, his
mother-, father and sister-in-law. Two months later, he received an
email from 23andMe telling him that the analysis was complete, and
logged on to its website. Today, the report that 23andMe provides
its customers is clearly sorted in a neat and user-friendly
profile, presenting the highest-risk diseases on a single page. But
back in 2007 you had to sift through the information yourself.
Fearful of what he might find -- Alzheimer's, for example -- it
took McCauley three days to work through his risks, opening 30
pages, one link at a time. It was, he says, "like turning over a
rock, where you're not sure you want to see what's under it".

There were some surprises: the results on his ethnicity revealed
that the family lore that his grandmother was half Cherokee was
groundless. Elsewhere, the analysis of disease risk showed that his
chances of heart complaints and type II diabetes were slightly
higher than average. Clicking deeper into the data, McCauley found
that his DNA revealed something much more rare: that he was four or five
times more likely than most people eventually to develop
age-related macular degeneration (AMD).

McCauley had no idea what this was. At first he thought it
sounded like something to do with his jaw, but he soon discovered
that the condition, which occurs mostly in adults from their late
sixties onwards, is a progressive blindness caused by a choking of
the blood supply to the retina. AMD slowly destroys patients' sight
from the centre of the retina outwards, until they're left with
nothing but peripheral vision -- a blurred halo of an image
surrounding a ragged black hole. They are unable to read or
recognise faces -- legally blind. The disease advances very swiftly
and is incurable. And of all the ailments detailed in the 23andMe
profile, AMD has one of the strongest genetic associations yet
established. "Well, I looked at that and I was like, 'Oh, that's
not good news!'"

McCauley read that there were a few preventative measures he
could take to reduce the chances of AMD one day rendering him
blind: don't smoke and avoid ultraviolet light, for instance. Also,
it seemed, he could try taking a special combination of vitamins,
including B12 and lutein. But when he consulted the research, he
could find little evidence to support the effectiveness of the
regime, based on his genotype. He was convinced that there should
be some way of finding out, a way to use his genetic data to create
a customised preventative treatment devised just for Raymond
McCauley -- what he calls "actionable personal information". At the
beginning of 2010, he decided to do so in the most direct way he
could think of: he began experimenting on himself.